Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727555
rs794727555
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs794727555
rs794727555
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.700 GeneticVariation UNIPROT Clinical utility gene card for: CHARGE syndrome. 21407266

2011